Posted November 16, 2008 by Lygeia Ricciardi
What if you knew you had a higher likelihood than most people of getting, say, heart disease? Would you eat fewer fries? Jog more often? Perhaps you’d feed your genetic data into a PHR so you could integrate it with other information and the tools you use to act on it.
In the last year, a couple of services have popped up that allow consumers to get their genes sequenced—either directly (paying for it themselves) or through their doctors (sometimes covered by insurance). The first well-known company in this area was 23andMe, launched in November of 2007, followed in April by Navigenics. Both demonstrated their wares at the recent Health 2.0. Conference, and “The Retail DNA Test” was awarded Time Magazine’s Best Inventions of 2008.
How do these services work? You collect a saliva sample in a plastic tube and send it in by mail for lab analysis. The lab scans the genome, identifying your risk markers for certain conditions. You then receive information (for example, “you have a 0.5% chance of getting esophageal cancer in the course of a lifetime”) and, depending on the service, an opportunity to review the test results with a genetic counselor. In theory, you can also use the information from the genetic scan to prevent, detect, or diagnose a variety of health conditions early. Services vary in cost from a few hundred to a couple of thousand dollars.
I am curious about these tests because they appear to hold great potential for enabling consumers to better understand and perhaps influence their own health. So I recently signed up to participate in a study that will attempt to find out whether knowledge of one’s genes in fact shapes behavior. I agreed to get my genes sequenced and also to answer questions, on an ongoing basis, about my diet, exercise, medicines or supplements I may be taking, and other topics.
On the one hand, I’m really excited about how better information about genetic predisposition toward certain conditions could help me–and society in general—improve prevention, research, development of new drugs, and result in truly “personalized” medicine that is tailored to each unique individual. On the other hand, the whole thing makes me a little uncomfortable.
- Concerns about my own health. What if there is some ticking time bomb I am now blissfully unaware of? A high likelihood of getting a particular condition doesn’t translate into certainty, but might I end up paranoid about it all the same?
- Discrimination. What if information in the scan is used to discriminate against me in the future? The Genetic Information Nondiscrimination Act of 2008 (GINA)–makes it illegal for employers and health insurers to discriminate on the basis of genetic information. But how well will GINA be enforced? And what about discrimination in other areas, like life insurance?
- Ramifications for my family. These tests are not paternity tests, so the emphasis isn’t on verifying your family tree, but information revealed through them could impact family members. For example, if I have a higher than average likelihood of getting, say, lung cancer, chances are some of my relatives do too. Just because I have decided to peek into the crystal ball doesn’t mean all of my relatives want to. And might the information influence my (or my relatives’) choices about having children?
Earlier this year 10 volunteers including venture capitalist Esther Dyson and Harvard Medical School CIO John Halamka decided to have their genetic sequencing—and health records—posted publicly on the Internet. While I’m not planning on posting my information publicly, I share their desire to push the field forward. Ultimately I believe that more information—especially in the hands of consumers—is a good thing. I also want to move from imagining the challenges and benefits of harnessing genetic information in the abstract to experiencing them directly.
In the short term, though, the whole exercise may end up being somewhat banal. The 10 volunteers mentioned above so far have seen “nothing shocking” in their genes. Like them, I am unlikely to learn anything of great significance in part because scientific ability to derive deeply meaningful information from the genome is still limited. In terms of altering behavior, for now we’re probably all best off adhering to the known basics of healthy behavior: eat vegetables, floss, wear sunscreen, exercise, etc. But who knows how this may all change in a few years?
What do you think? Would you have your genome sequenced? Why or why not?